Analysis of Clinical and Demographic Characteristics among Turkish Patients with Neurofibromatosis Type 1, with a Focus on Dermatological Features

Abstract

Abstract Background Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by distinct clinical features. Aim This study aims to address this gap by investigating the demographic and clinical features of NF1 in the Turkish population. Methods A retrospective review of the medical records of 128 patients diagnosed with Neurofibromatosis Type 1 (NF1) over a three-year period was conducted.The analysis focused on investigating the demographic and clinical characteristics of the patients, including key parameters such as vitamin D levels and also Body Mass Index (BMI). Result Nevus anemicus was present in 32.8% of NF1 patients, and a significant association was found between nevus anemicus and low vitamin D levels (p = 0.001). Although a higher frequency of neurofibromas was observed in patients with low serum vitamin D levels, but the difference was not statistically significant. Conclusion Our findings suggest an association between NF1 and lower vitamin D levels. Additionally, individuals with decreased vitamin D levels may demonstrate an increased susceptibility to the development of neurofibromas and a higher prevalence of nevus anemicus. To gain a better understanding of this relationship, we propose the necessity of a prospective study. Such a study would be instrumental in evaluating the correlation between nevus anemicus and vitamin D levels in both NF1 patients and a healthy control group.